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Metadata
ID DOID:0050717
Name methylmalonic aciduria and homocystinuria type cblF
Definition A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.
https://www.ncbi.nlm.nih.gov/pubmed/21910240
Xrefs

OMIM:277380

Synonyms

Cobalamin F deficiency [EXACT]

Parent Relationships

is_a methylmalonic acidemia

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